Hormone Therapy

The Effect of Hormonal Therapy on the Behavioral Outcomes in 47,XXY (Klinefelter Syndrome) between 7 and 12 Years of Age.

TL;DR

Hormonal replacement therapy, specifically the combination of early hormonal treatment and hormonal booster therapy, was associated with better behavioral and executive function outcomes in boys ages 7-12 with 47,XXY (Klinefelter syndrome) compared to untreated boys.

Key Findings

Treated groups demonstrated better executive function scores than the untreated group on multiple BRIEF subscales.

  • Significant group differences were found in emotional control, initiative, organization of materials, behavioral rating index, metacognition index, and global executive composite on the BRIEF.
  • Boys receiving both EHT and HBT showed the most favorable executive function outcomes compared to untreated boys.
  • Analysis was conducted using ANOVA and Kruskal-Wallis tests to determine group differences.
  • Participants were divided into 4 groups: untreated, early hormonal treatment (EHT) only, hormonal booster therapy (HBT) only, and both EHT and HBT.

Treated groups showed better behavioral outcomes than the untreated group across multiple CBCL subscales.

  • Treated groups presented better scores on somatic complaints, social problems, thought problems, attention problems, aggressive behavior, internalizing problems, and total problems.
  • Additional CBCL domains with better scores in treated groups included affective problems, somatic problems, ADHD problems, oppositional defiant problems, and sluggish cognitive tempo problems.
  • The combination of EHT and HBT was associated with the most favorable behavioral outcomes on the CBCL.
  • The Child Behavior Checklist (CBCL) was used to assess behavioral outcomes in boys ages 7–12.

The combination of early hormonal treatment and hormonal booster therapy was associated with better outcomes than either treatment alone or no treatment.

  • Four treatment groups were compared: untreated, EHT only, HBT only, and both EHT and HBT.
  • The group receiving both EHT and HBT consistently showed the most favorable scores across BRIEF and CBCL measures.
  • Results suggest that the combination of EHT and HBT 'may be successful in mitigating some undesirable behavioral outcomes.'
  • The authors noted that further research is necessary to determine optimal dosage, specific ages, and long-term benefits of the combination therapy.

Studies investigating HRT's effect on behavioral outcomes in boys with 47,XXY are scarce despite existing evidence of neurodevelopmental benefits.

  • 47,XXY (Klinefelter syndrome) is described as 'the most commonly occurring sex chromosomal aneuploidy (SCA).'
  • Prior research has associated HRT with improved neurodevelopmental capabilities in boys with 47,XXY.
  • The current study specifically targeted the 7–12 age range, a period not well-studied with respect to HRT and behavioral outcomes.
  • The study used two standardized behavioral assessment instruments: the CBCL and the BRIEF.

The study population was divided into treatment groups based on hormonal therapy status and assessed using standardized behavioral rating instruments.

  • Patients were boys between 7 and 12 years of age with a confirmed diagnosis of 47,XXY.
  • Four groups were defined by HRT status: untreated, EHT only, HBT only, and both EHT and HBT.
  • Behavioral outcomes were measured using the Child Behavior Checklist (CBCL) and the Behavior Rating Inventory of Executive Function (BRIEF).
  • Statistical analyses included Analysis of Variance (ANOVA) and Kruskal-Wallis tests to determine group differences.

Have a question about this study?

Citation

Hamzik M, Gropman A, Brooks M, Powell S, Sadeghin T, Samango-Sprouse C. (2023). The Effect of Hormonal Therapy on the Behavioral Outcomes in 47,XXY (Klinefelter Syndrome) between 7 and 12 Years of Age.. Genes. https://doi.org/10.3390/genes14071402